Major Histocompatibility Complex Class II

Systemic Lupus Erythematosus

Volumn , Issue , 2011, Pages 3-19

  Fernando, Michelle M A ^a   Vyse, Tim J ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882764574     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374994-9.10001-4     Document Type: Chapter

References (93)

1. Gorer P.A. The detection of a hereditary antigenic difference in the blood of mice by means of human group A serum. J Genet 1936, 32:17-31.
2. Gorer P.A. The detection of antigenic differences in mouse erythrocytes bt the employment of immune sera. Br J Exp Pathol 1936, 17:42-50.
3. Klein J. Seeds of time: fifty years ago Peter A. Gorer discovered the H-2 complex. Immunogenetics 1986, 24:331-338.
4. Snell G.D. Methods for the study of histocompatibility genes. J Genet 1948, 87-108.
5. Dausset J. [Iso-leuko-antibodies.]. Acta. Haematol 1958, 20:156-166.
6. Benacerraf B. Role of MHC gene products in immune regulation. Science 1981, 212:1229-1238.
7. Horton R., Wilming L., Rand V., Lovering R.C., Bruford E.A., Khodiyar V.K., et al. Gene map of the extended human MHC. Nat Rev Genet 2004, 5:889-899.
8. Zernich D., Purcell A.W., Macdonald W.A., Kjer-Nielsen L., Ely L.K., Laham N., et al. Natural HLA class I polymorphism controls the pathway of antigen presentation and susceptibility to viral evasion. J Exp Med 2004, 200:13-24.
9. Amos B., Ward F.E., Zmijewski C.M., Hattler B.G., Seigler H.F. Graft donor selection based upon single locus (haplotype) analysis within families. Transplantation 1968, 6:524-534.
10. Williams T.M. Human leukocyte antigen gene polymorphism and the histocompatibility laboratory. J Mol Diagn 2001, 3:98-104.
11. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., et al. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
12. Walsh E.C., Mather K.A., Schaffner S.F., Farwell L., Daly M.J., Patterson N., et al. An integrated haplotype map of the human major histocompatibility complex. Am J Hum Genet 2003, 73:580-590.
13. Miretti M.M., Walsh E.C., Ke X., Delgado M., Griffiths M., Hunt S., et al. A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet 2005, 76:634-646.
14. Yunis E.J., Larsen C.E., Fernandez-Vina M., Awdeh Z.L., Romero T., Hansen J.A., et al. Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks. Tissue Antigens 2003, 62:1-20.
15. Degli-Esposti M.A., Leaver A.L., Christiansen F.T., Witt C.S., Abraham L.J., Dawkins R.L. Ancestral haplotypes: conserved population MHC haplotypes. Hum Immunol 1992, 34:242-252.
16. Degli-Esposti M.A., Leelayuwat C., Daly L.N., Carcassi C., Contu L., Versluis L.F., et al. Updated characterization of ancestral haplotypes using the Fourth Asia-Oceania Histocompatibility Workshop panel. Hum Immunol 1995, 44:12-18.
17. Awdeh Z.L., Raum D., Yunis E.J., Alper C.A. Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man. Proc Natl Acad Sci U S A 1983, 80:259-263.
18. Dorak M.T., Shao W., Machulla H.K., Lobashevsky E.S., Tang J., Park M.H., et al. Conserved extended haplotypes of the major histocompatibility complex: further characterization. Genes Immun 2006, 7:450-467.
19. Jongeneel C.V., Briant L., Udalova I.A., Sevin A., Nedospasov S.A., Cambon-Thomsen A. Extensive genetic polymorphism in the human tumor necrosis factor region and relation to extended HLA haplotypes. Proc Natl Acad Sci U S A 1991, 88:9717-9721.
20. Sturfelt G., Hellmer G., Truedsson L. TNF microsatellites in systemic lupus erythematosus-a high frequency of the TNFabc 2-3-1 haplotype in multicase SLE families. Lupus 1996, 5:618-622.
21. Campbell R.D., Trowsdale J. Map of the human MHC. Immunol Today 1993, 14:349-352.
22. The MHC sequencing consortium Complete sequence and gene map of a human major histocompatibility complex. The MHC sequencing consortium. Nature 1999, 401:921-923.
23. Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C., Baldwin J., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
24. Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., et al. The sequence of the human genome. Science 2001, 291:1304-1351.
25. Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., et al. The DNA sequence and analysis of human chromosome 6. Nature 2003, 425:805-811.
26. Stewart C.A., Horton R., Allcock R.J., Ashurst J.L., Atrazhev A.M., Coggill P., et al. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res 2004, 14:1176-1187.
27. Horton R., Gibson R., Coggill P., Miretti M., Allcock R.J., Almeida J., et al. Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project. Immunogenetics 2008, 60:1-18.
28. Allcock R.J., Atrazhev A.M., Beck S., de Jong P.J., Elliott J.F., Forbes S., et al. The MHC haplotype project: a resource for HLA-linked association studies. Tissue Antigens 2002, 59:520-521.
29. Traherne J.A., Horton R., Roberts A.N., Miretti M.M., Hurles M.E., Stewart C.A., et al. Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet 2006, 2:e9.
30. Smith W.P., Vu Q., Li S.S., Hansen J.A., Zhao L.P., Geraghty D.E. Toward understanding MHC disease associations: partial resequencing of 46 distinct HLA haplotypes. Genomics 2006, 87:561-571.
31. Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M., et al. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. Genetics 2006, 173:1555-1570.
32. Marsh S.G.E., Parham P., Barber L.D. The HLA FactsBook 2000, Academic Press.
33. Fernando M.M., Stevens C.R., Walsh E.C., De Jager P.L., Goyette P., Plenge R.M., et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008, 4:e1000024.
34. Pickering M.C., Walport M.J. Links between complement abnormalities and systemic lupus erythematosus. Rheumatology (Oxford) 2000, 39:133-141.
35. Gaffney P.M., Kearns G.M., Shark K.B., Ortmann W.A., Selby S.A., Malmgren M.L., et al. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A 1998, 95:14875-14879.
36. Gaffney P.M., Ortmann W.A., Selby S.A., Shark K.B., Ockenden T.C., Rohlf K.E., et al. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet 2000, 66:547-556.
37. Shai R., Quismorio F.P., Li L., Kwon O.J., Morrison J., Wallace D.J., et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 1999, 8:639-644.
38. Lindqvist A.K., Steinsson K., Johanneson B., Kristjansdottir H., Arnasson A., Grondal G., et al. A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 2000, 14:169-178.
39. Gray-McGuire C., Moser K.L., Gaffney P.M., Kelly J., Yu H., Olson J.M., et al. Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. Am J Hum Genet 2000, 67:1460-1469.
40. Forabosco P., Gorman J.D., Cleveland C., Kelly J.A., Fisher S.A., Ortmann W.A., et al. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun 2006, 7:609-614.
41. Harley J.B., Alarcon-Riquelme M.E., Criswell L.A., Jacob C.O., Kimberly R.P., Moser K.L., et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat. Genet 2008, 40:204-210.
42. Hom G., Graham R.R., Modrek B., Taylor K.E., Ortmann W., Garnier S., et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008, 358:900-909.
43. Graham R.R., Cotsapas C., Davies L., Hackett R., Lessard C.J., Leon J.M., et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008.
44. Zhernakova A., van Diemen C.C., Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009, 10:43-55.
45. Grumet F.C., Coukell A., Bodmer J.G., Bodmer W.F., McDevitt H.O. Histocompatibility (HL-A) antigens associated with systemic lupus erythematosus. A possible genetic predisposition to disease. N Engl J. Med 1971, 285:193-196.
46. Waters H., Konrad P., Walford R.L. The distribution of HL-A histocompatibility factors and genes in patients with systemic lupus erythematosus. Tissue Antigens 1971, 1:68-73.
47. Tsao B.P. Update on human systemic lupus erythematosus genetics. Curr Opin Rheumatol 2004, 16:513-521.
48. Uribe A.G., McGwin G., Reveille J.D., Alarcon G.S. What have we learned from a 10-year experience with the LUMINA (Lupus in Minorities; Nature vs. nurture) cohort? Where are we heading?. Autoimmun Rev 2004, 3:321-329.
49. Reveille J.D., Schrohenloher R.E., Acton R.T., Barger B.O. DNA analysis of HLA-DR and DQ genes in American blacks with systemic lupus erythematosus. Arthritis Rheum 1989, 32:1243-1251.
50. Howard P.F., Hochberg M.C., Bias W.B., Arnett F.C., McLean R.H. Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and black Americans. Am J Med 1986, 81:187-193.
51. Mehra N.K., Pande I., Taneja V., Uppal S.S., Saxena S.P., Kumar A., et al. Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus in northern India. Lupus 1993, 2:313-314.
52. Cortes L.M., Baltazar L.M., Lopez-Cardona M.G., Olivares N., Ramos C., Salazar M., et al. HLA class II haplotypes in Mexican systemic lupus erythematosus patients. Hum Immunol 2004, 65:1469-1476.
53. Ayed K., Gorgi Y., Ayed-Jendoubi S., Bardi R. The involvement of HLA -DRB1, DQA1, DQB1 and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians. Ann Saudi Med 2004, 24:31-35.
54. Lee H.S., Chung Y.H., Kim T.G., Kim T.H., Jun J.B., Jung S., et al. Independent association of HLA-DR and FCgamma receptor polymorphisms in Korean patients with systemic lupus erythematosus. Rheumatology (Oxford) 2003, 42:1501-1507.
55. Smikle M., Christian N., DeCeulaer K., Barton E., Roye-Green K., Dowe G., et al. HLA-DRB alleles and systemic lupus erythematosus in Jamaicans. South Med J 2002, 95:717-719.
56. Schur P.H. Genetics of systemic lupus erythematosus. Lupus 1995, 4:425-437.
57. Logar D., Vidan-Jeras B., Dolzan V., Bozic B., Kveder T. The contribution of HLA-DQB1 coding and QBP promoter alleles to anti-Ro alone autoantibody response in systemic lupus erythematosus. Rheumatology (Oxford) 2002, 41:305-311.
58. Azizah M.R., Ainoi S.S., Kuak S.H., Kong N.C., Normaznah Y., Rahim M.N. The association of the HLA class II antigens with clinical and autoantibody expression in Malaysian Chinese patients with systemic lupus erythematosus. Asian Pac J Allergy Immunol 2001, 19:93-100.
59. Miyagawa S., Shinohara K., Nakajima M., Kidoguchi K., Fujita T., Fukumoto T., et al. Polymorphisms of HLA class II genes and autoimmune responses to Ro/SS-A-La/SS-B among Japanese subjects. Arthritis Rheum 1998, 41:927-934.
60. Galeazzi M., Sebastiani G.D., Morozzi G., Carcassi C., Ferrara G.B., Scorza R., et al. HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical and autoantibody subsets. Medicine (Baltimore) 2002, 81:169-178.
61. Arnett F.C., Olsen M.L., Anderson K.L., Reveille J.D. Molecular analysis of major histocompatibility complex alleles associated with the lupus anticoagulant. J Clin Invest 1991, 87:1490-1495.
62. Arnett F.C., Thiagarajan P., Ahn C., Reveille J.D. Associations of anti-beta2-glycoprotein I autoantibodies with HLA class II alleles in three ethnic groups. Arthritis Rheum 1999, 42:268-274.
63. Galeazzi M., Sebastiani G.D., Tincani A., Piette J.C., Allegri F., Morozzi G., et al. HLA class II alleles associations of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus. Lupus 2000, 9:47-55.
64. Graham R.R., Ortmann W., Rodine P., Espe K., Langefeld C., Lange E., et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet 2007, 15:823-830.
65. Harley J.B., Moser K.L., Gaffney P.M., Behrens T.W. The genetics of human systemic lupus erythematosus. Curr Opin Immunol 1998, 10:690-696.
66. Graham R.R., Ortmann W.A., Langefeld C.D., Jawaheer D., Selby S.A., Rodine P.R., et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet 2002, 71:543-553.
67. Yeo T.W., De Jager P.L., Gregory S.G., Barcellos L.F., Walton A., Goris A., et al. A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol 2007, 61:228-236.
68. Nejentsev S., Howson J.M., Walker N.M., Szeszko J., Field S.F., Stevens H.E., et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 2007, 450:887-892.
69. Fernando M.M., Stevens C.R., Sabeti P.C., Walsh E.C., McWhinnie A.J., Shah A., et al. Identification of Two Independent Risk Factors for Lupus within the MHC in United Kingdom Families. PLoS Genet 2007, 3:e192.
70. Rioux J.D., Goyette P., Vyse T.J., Hammarstrom L., Fernando M.M., Green T., et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci USA 2009.
71. L.J. Palmer, L.R. Cardon, Shaking the tree: mapping complex disease genes with linkage disequilibrium, The Lancet. 366 1223-1234.
72. Strachan T., Read A.P. Human Molecular Genetics 2 1999, BIOS Scientific Publishers Ltd.
73. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
74. Hafler D.A., De Jager P.L. Applying a new generation of genetic maps to understand human inflammatory disease. Nature reviews 2005, 5:83-91.
75. Kozyrev S.V., Abelson A.K., Wojcik J., Zaghlool A., Linga Reddy M.V., Sanchez E., et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008, 40:211-216.
76. de Bakker P.I., McVean G., Sabeti P.C., Miretti M.M., Green T., Marchini J., et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006, 38:1166-1172.
77. Taylor P.R., Nash J.T., Theodoridis E., Bygrave A.E., Walport M.J., Botto M. A targeted disruption of the murine complement factor B gene resulting in loss of expression of three genes in close proximity, factor B, C2, and D17H6S45. J Biol Chem 1998, 273:1699-1704.
78. Lehner B., Semple J.I., Brown S.E., Counsell D., Campbell R.D., Sanderson C.M. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Genomics 2004, 83:153-167.
79. Lee Y.H., Harley J.B., Nath S.K. Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet 2006, 14:364-371.
80. McHugh N.J., Owen P., Cox B., Dunphy J., Welsh K. MHC class II, tumour necrosis factor alpha, and lymphotoxin alpha gene haplotype associations with serological subsets of systemic lupus erythematosus. Ann Rheum Dis 2006, 65:488-494.
81. Sanchez E., Torres B., Vilches J.R., Lopez-Nevot M.A., Ortego-Centeno N., Jimenez-Alonso J., et al. No primary association of MICA polymorphism with systemic lupus erythematosus. Rheumatology (Oxford) 2006, 45:1096-1100.
82. Rood M.J., van Krugten M.V., Zanelli E., van der Linden M.W., Keijsers V., Schreuder G.M., et al. TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus. Arthritis Rheum 2000, 43:129-134.
83. Jonsen A., Bengtsson A.A., Sturfelt G., Truedsson L. Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility. Arthritis Res Ther 2004, 6:R557-562.
84. Bekker-Mendez C., Yamamoto-Furusho J.K., Vargas-Alarcon G., Ize-Ludlow D., Alcocer-Varela J., Granados J. Haplotype distribution of class II MHC genes in Mexican patients with systemic lupus erythematosus. Scand J Rheumatol 1998, 27:373-376.
85. Tsuchiya N., Kawasaki A., Tsao B.P., Komata T., Grossman J.M., Tokunaga K. Analysis of the association of HLA-DRB1, TNFalpha promoter and TNFR2 (TNFRSF1B) polymorphisms with SLE using transmission disequilibrium test. Genes Immun 2001, 2:317-322.
86. Gladman D.D., Urowitz M.B., Darlington G.A. Disease expression and class II HLA antigens in systemic lupus erythematosus. Lupus 1999, 8:466-470.
87. Chen Q.Y., Huang W., She J.X., Baxter F., Volpe R., Maclaren N.K. HLA-DRB108, DRB103/DRB30101, and DRB30202 are susceptibility genes for Graves' disease in North American Caucasians, whereas DRB107 is protective. J Clin Endocrinol Metab 1999, 84:3182-3186.
88. Simmonds M.J., Howson J.M., Heward J.M., Cordell H.J., Foxall H., Carr-Smith J., et al. Regression mapping of association between the human leukocyte antigen region and Graves disease. Am J Hum Genet 2005, 76:157-163.
89. Cavan D.A., Jacobs K.H., Penny M.A., Kelly M.A., Mijovic C., Jenkins D., et al. Both DQA1 and DQB1 genes are implicated in HLA-associated protection from type 1 (insulin-dependent) diabetes mellitus in a British Caucasian population. Diabetologia 1993, 36:252-257.
90. Weyand C.M., McCarthy T.G., Goronzy J.J. Correlation between disease phenotype and genetic heterogeneity in rheumatoid arthritis. J Clin Invest 1995, 95:2120-2126.
91. Klein J., Sato A. The HLA system. First of two parts. N Engl J Med 2000, 343:702-709.
92. Fry, B. (2005) Computational Information Design. Thesis, Massachussetts Institute of Technology.
93. Andersson G. Evolution of the human HLA-DR region. Front Biosci 1998, 3:d739-745.